Harms Laboratory

Matthew Harms, MD

HarmsDr. Harms’ laboratory investigates the genetic landscape of amyotrophic lateral sclerosis (ALS) and a range of other hereditary neuromuscular diseases that includes CMT, SMA, and LGMD. These efforts use next-generation sequencing technology to understand the mutational spectrum of known genes in these diseases, but focus strongly on novel gene discovery. Using exome sequencing, Dr. Harms’ team has discovered that mutations inDYNC1H1are the cause of an autosomal dominant form of spinal muscular atrophy, and that limb-girdle muscular dystrophy 1D results from abnormalities ofDNAJB6. His lab is now leveraging their next-gen expertise to identify additional genes for ALS, hoping to provide insights into disease pathology and identify therapeutic targets.